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MAMMALIAN PHENOTYPE - ANNOTATIONS

The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.

Term:lipodystrophy
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Accession:MP:0011174 term browser browse the term
Definition:abnormal or degenerative conditions of the body's adipose tissue resulting in bodily or focal loss and the appearance of redistribution of fat tissue; adipose tissue loss may be total, partial, or localized



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lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat2 1-acylglycerol-3-phosphate O-acyltransferase 2 IAGP MGI PMID:21051554 NCBI chr 2:26,483,069...26,494,429
Ensembl chr 2:26,483,069...26,494,429
JBrowse link
G Ap1s2 adaptor-related protein complex 1, sigma 2 subunit IAGP MGI PMID:24928897 NCBI chr  X:162,691,427...162,716,662
Ensembl chr  X:162,692,013...162,716,662
JBrowse link
G Atp6v0d1 ATPase, H+ transporting, lysosomal V0 subunit D1 IAGP MGI PMID:38505620 NCBI chr 8:106,251,093...106,292,696
Ensembl chr 8:106,251,097...106,292,679
JBrowse link
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin IAGP MGI PMID:23680914 PMID:24778225 PMID:29459250 NCBI chr19:8,814,831...8,826,047
Ensembl chr19:8,814,831...8,826,047
Ensembl chr 2:8,814,831...8,826,047
JBrowse link
G Bub1b BUB1B, mitotic checkpoint serine/threonine kinase IAGP MGI PMID:31738183 NCBI chr 2:118,428,684...118,472,073
Ensembl chr 2:118,428,692...118,472,072
JBrowse link
G Cavin3 caveolae associated 3 IAGP MGI PMID:24069528 NCBI chr 7:105,129,823...105,131,404
Ensembl chr 7:105,129,290...105,131,507
JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 IAGP MGI PMID:17326724 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947
JBrowse link
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano IAGP MGI PMID:27573812 NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,055,336
JBrowse link
G Med19 mediator complex subunit 19 IAGP MGI PMID:33027649 NCBI chr 2:84,508,769...84,519,330
Ensembl chr 2:84,508,746...84,518,559
JBrowse link
G Pck1 phosphoenolpyruvate carboxykinase 1, cytosolic IAGP MGI PMID:11792850 NCBI chr 2:172,994,866...173,001,067
Ensembl chr 2:172,994,841...173,001,066
JBrowse link
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 IAGP MGI PMID:26974159 NCBI chr13:101,817,269...101,904,725
Ensembl chr13:101,817,071...101,904,725
JBrowse link
G Pparg peroxisome proliferator activated receptor gamma IAGP MGI PMID:14603033 PMID:15716267 NCBI chr 6:115,337,828...115,467,365
Ensembl chr 6:115,337,912...115,467,360
JBrowse link
G Pten phosphatase and tensin homolog IAGP MGI PMID:27573812 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
JBrowse link
G Reep1 receptor accessory protein 1 IAGP MGI PMID:27638887 NCBI chr 6:71,684,413...71,787,694
Ensembl chr 6:71,684,545...71,787,694
JBrowse link
G Sh3pxd2b SH3 and PX domains 2B IAGP MGI PMID:27711054 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173
JBrowse link
G Trib1 tribbles pseudokinase 1 IAGP MGI PMID:23515163 NCBI chr15:59,520,503...59,528,948
Ensembl chr15:59,520,199...59,528,948
JBrowse link
G Xpa xeroderma pigmentosum, complementation group A IAGP MGI PMID:17326724 NCBI chr 4:46,175,222...46,196,317
Ensembl chr 4:46,155,347...46,196,311
JBrowse link

Term paths to the root
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Term Annotations click to browse term
  mammalian phenotype 16975
    adipose tissue phenotype 1666
      abnormal adipose tissue morphology 1624
        lipodystrophy 17
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